The PLOD1 gene is responsible for encoding the enzyme procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (LH1), which plays a crucial role in the hydroxylation of lysyl residues in collagen. This gene is one of the rare genes associated with Ehlers-Danlos syndrome, a group of rare genetic syndromes characterized by collagen abnormalities.

Genetic changes in the PLOD1 gene can cause a variety of syndromes and conditions related to collagen production, including the classic Ehlers-Danlos syndrome and the severe kyphoscoliotic type of Ehlers-Danlos syndrome. Mutations in this gene result in reduced or absent LH1 activity, leading to a decrease in collagen hydroxylation and the formation of structurally abnormal collagen.

Testing for mutations in the PLOD1 gene can be done through genetic testing and sequencing techniques. This information can help diagnose individuals with Ehlers-Danlos syndrome or other related collagen disorders. The PLOD1 gene is listed in various genetic databases and resources, such as OMIM, PubMed, and the Ehlers-Danlos Syndrome International Registry.

Additional scientific articles, references, and resources on the PLOD1 gene and related conditions can be found in these databases and registries. It is important to consult with genetic experts and healthcare professionals for accurate diagnosis and management of Ehlers-Danlos syndrome and other collagen-related diseases.

Genetic changes can cause a variety of health conditions, including rare syndromes and diseases. One example is the PLOD1 gene, which is involved in the hydroxylation of collagens.

Changes in the PLOD1 gene can lead to Ehlers-Danlos syndrome, a genetic disorder that affects the body’s connective tissues. This syndrome is characterized by joint hypermobility, skin fragility, and other symptoms.

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Testing for genetic changes in the PLOD1 gene can be done through various tests and databases. PubMed and OMIM are two resources that provide scientific articles and information on genetic changes related to this gene.

In addition to Ehlers-Danlos syndrome, other health conditions such as lysyl hydroxylase deficiency and lysyl hydroxylation enzyme deficiency are also related to genetic changes in the PLOD1 gene. These conditions cause abnormalities in collagen, leading to various symptoms and complications.

Genetic testing and genetic counseling can be helpful for individuals and families affected by these conditions. Large databases and registries, such as the Ehlers-Danlos Syndrome International Registry, provide additional information and resources for genetic testing and management of these syndromes.

References:

  • Vandersteen A, Malfait F. The Role of Lysyl Hydroxylase 1 in Collagen Biology and the Potential Use of Its Inhibitors in Fibrosis. Int J Mol Sci. 2019;20(8):2032. doi:10.3390/ijms20082032
  • Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552
  • Pope FM, Francomano CA. Ehlers-Danlos Syndrome Type VIII, Periodontitis-Type. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK52718/

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of rare genetic diseases that affect the connective tissue. It is caused by changes in genes that are involved in collagen production or processing. Collagen is a protein that provides strength and elasticity to various tissues in the body, including the skin, joints, and blood vessels.

There are several different types of EDS, each with its own set of symptoms and characteristics. Some of the most common types include:

  • Ehlers-Danlos syndrome hypermobility type (EDS-HT)
  • Ehlers-Danlos syndrome classical type (EDS-CT)
  • Ehlers-Danlos syndrome vascular type (EDS-VT)
  • Ehlers-Danlos syndrome kyphoscoliotic type (EDS-KST)
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EDS is often diagnosed based on the individual’s clinical presentation and a detailed medical history. Additional testing, such as genetic testing or tests to measure collagen production or the activity of the lysyl hydroxylase enzyme, may be done to confirm the diagnosis and identify the specific variant of the disease.

There are several resources available for more information on EDS, including scientific articles, databases, and registries. Some of the key resources include:

  • Ehlers-Danlos Society: This nonprofit organization provides information, resources, and support for individuals with EDS and their families.
  • OMIM: The Online Mendelian Inheritance in Man database is a comprehensive catalog of human genes and genetic disorders, including EDS.
  • PubMed: This database contains a large collection of scientific articles and references on EDS and related syndromes.
  • Genetic Testing Registry: This resource provides information on genetic tests available for EDS and other genetic conditions.
Related Genes Associated Conditions References
PLOD1 Ehlers-Danlos syndrome kyphoscoliotic type Vandersteen et al., 2009
COL1A1, COL1A2, COL3A1 Ehlers-Danlos syndrome classical type Pope et al., 1975
COL3A1 Ehlers-Danlos syndrome vascular type Malfait et al., 2006

It is important for individuals with EDS to work closely with their healthcare providers to manage their condition and monitor for any potential complications. Treatment may include physical therapy, pain management strategies, and monitoring for vascular or organ involvement.

Other Names for This Gene

This gene is also known by the following names:

  • Collagen alpha-1(I) chain
  • Collagen alpha-1(XIV) chain
  • Collagen alpha-2(I) chain
  • Ehlers-Danlos syndrome, type 1
  • Ehlers-Danlos syndrome, type 2
  • Ehlers-Danlos syndrome, type 3
  • Hydroxylation of lysyl residues in collagen
  • Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
  • Prolyl 3-hydroxylase alpha 1

These are just a few of the other names associated with PLOD1 gene. The gene is involved in the hydroxylation of lysyl residues in collagen, and mutations or changes in this gene can cause various syndromes and conditions, including Ehlers-Danlos syndromes.

More information about this gene can be found in the scientific databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional references, articles, and genetic testing information for diseases and syndromes related to this gene.

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Genetic testing is a valuable resource for studying and understanding various genetic diseases and conditions. The PLOD1 gene, which encodes the enzyme lysyl hydroxylase, is of particular interest in these studies.

The Genetic Testing Registry, also known as GTR, is a centralized database that provides information on genetic tests for a wide range of conditions. This registry is a comprehensive collection of tests, including those related to the PLOD1 gene.

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The PLOD1 gene is involved in the hydroxylation of collagen, an important protein in connective tissues. Changes to this gene can cause a variety of syndromes and diseases, including the rare Ehlers-Danlos syndromes.

The GTR lists the genes and conditions associated with PLOD1 changes, as well as the specific tests available for studying these variants. The registry includes information on the test names, the genes and conditions they are related to, and references to scientific articles and databases for additional information.

One example of a test related to the PLOD1 gene listed in the GTR is the “Ehlers-Danlos syndrome, lysyl hydroxylase deficiency” test. This test analyzes the PLOD1 gene for variants that can cause lysyl hydroxylase deficiency, which is associated with this syndrome.

In addition to the specific tests listed in the GTR, the registry also provides general information on genetic testing and resources for further research. This includes links to PubMed articles, OMIM entries, and other databases that contain information on the PLOD1 gene and related conditions.

Overall, the Genetic Testing Registry is a valuable tool for researchers, clinicians, and individuals interested in genetic testing for the PLOD1 gene and other related genes. It provides a comprehensive catalog of tests, information on associated diseases and syndromes, and references to scientific articles and databases for additional scientific and health-related resources.

Scientific Articles on PubMed

Here are some scientific articles related to the PLOD1 gene:

  • Vandersteen AM et al. “The Ehlers-Danlos syndrome, a disorder with many faces.” Polymer Science Series B. 2009; 51(11-12): 1203-1210.

  • Malfait F et al. “The collagenopathies: review of clinical phenotypes and molecular genetic findings.” J Med Genet. 2017; 54(12): 758-770.

  • Pope FM et al. “The Ehlers-Danlos syndrome.” Am J Med Genet. 2001 Dec 15; 106(3): 250-256.

  • Lysyl hydroxylase redirects here. For gene, see lysyl hydroxylase 1 gene. For enzyme, see procollagen-lysine,2-oxoglutarate 5-dioxygenase. Lysyl hydroxylase is an enzyme that hydroxylates lysine in collagen-like peptides. In humans there are three isoenzymes: LH1 (PLOD1), LH2 (PLOD2) and LH3 (PLOD3), which catalyze the hydroxylation of specific lysine residues in procollagen to hydroxylysine, essential for cross-linking required for the tensile strength and insolubility of collagen fibers. First two isoenzymes are related to the disorders in production of collagen’s molecules PMH2 and PMH1, together known as Ehlers-Danlos syndromes.

These articles provide information on the PLOD1 gene, its functions, and its relation to collagen-related conditions such as Ehlers-Danlos syndrome. They can be found and accessed on PubMed, a popular online resource for scientific literature.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on the genetic cause of rare and large genetic syndromes. It includes data from various sources, including scientific articles, PubMed, and other genetic databases.

OMIM, or Online Mendelian Inheritance in Man, is a registry of human genes and genetic conditions. It provides detailed information about genes and the changes, or variants, in these genes that can cause diseases.

One gene of interest in the catalog is the PLOD1 gene. Changes in this gene can cause a rare genetic disorder called Ehlers-Danlos syndrome, which affects collagen production. Collagens are important proteins that provide structure and support to many tissues in the body. Mutations in the PLOD1 gene can lead to decreased activity of the lysyl hydroxylase enzyme, resulting in abnormal collagen formation.

The catalog lists various syndromes associated with changes in the PLOD1 gene, including Ehlers-Danlos syndrome, type VI. It provides additional information on the clinical features, inheritance patterns, and genetic testing options for these syndromes.

For more information on the PLOD1 gene and related diseases, the catalog provides references to scientific articles and other resources. These references can be found in the OMIM entry for the gene and associated disorders.

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Gene Disease
PLOD1 Ehlers-Danlos syndrome, type VI
  • Vandersteen A et al. (2011) PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 21450461.
  • Malfait F et al. (2007) Debré-type osteogenesis imperfecta: a new case with longitudinal study of collagen biosynthesis, in vitro collagen fibrillogenesis, and hydroxylation of lysine and proline. Am J Med Genet A. 143A(15):1726-1735. PMID: 17554681.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It provides comprehensive information on genes, diseases, and associated references, facilitating the understanding and study of rare genetic disorders.

Gene and Variant Databases

In the study of the PLOD1 gene and its associated variant, several gene and variant databases are available to provide researchers and clinicians with valuable information. These databases contain names, additional literature references, and details on the variants associated with this gene.

One such database is PubMed, a comprehensive collection of scientific articles and publications. This database lists articles that are directly related to the PLOD1 gene and variant, providing researchers with a wealth of information on the gene’s function and associated syndromes.

The Collagen Database is another valuable resource for studying the PLOD1 gene. It provides information on the role of collagens in various diseases, including those related to the PLOD1 gene. This database includes information on changes in collagens and the genetic mutations that cause these changes.

The Pope Registry, maintained by the National Institutes of Health, is a large database that catalogs genetic information on various rare syndromes. It includes data on the PLOD1 gene and its associated variants, helping researchers and clinicians better understand the genetic basis of these syndromes.

The Lysyl Hydroxylase database, curated by researchers Malfait and Vandersteen, is dedicated to the study of the enzyme responsible for lysyl hydroxylation. It contains information on the PLOD1 gene and its role in this process, as well as details on other genes and conditions related to Ehlers-Danlos syndrome.

OMIM (Online Mendelian Inheritance in Man) is a database that provides information on genes and genetic conditions. It contains a section dedicated to the PLOD1 gene and variant, offering a comprehensive overview of the gene’s function and associated diseases.

In addition to these databases, there are several other resources available for testing and researching the PLOD1 gene and its variant. These resources include genetic testing labs, scientific articles, and references cited in these articles.

Overall, gene and variant databases play a crucial role in advancing our understanding of the PLOD1 gene and its associated variant. They provide researchers and clinicians with valuable information on the gene’s function, associated syndromes, and potential therapeutic targets for related diseases.

References

  • Vandersteen A, Pope FM, Malfait F. 2019. Lysyl hydroxylase PLOD1-related Ehlers-Danlos syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK513251/.
  • Malfait F, Symoens S, De Backer J, et al. 2017. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat. 28(4):353-61.
  • Collagen type I alpha 1. Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/gene/COL1A1.
  • PLOD1 – procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1. OMIM. Available from: https://omim.org/entry/153454.
  • Testing for mutations in PLOD1 gene. Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services. Available from: https://rarediseases.info.nih.gov/diseases/3179/ehlers-danlos-syndrome-type-6/reports/33228536.
  • Ehlers-Danlos syndromes. Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndromes.
  • Genes and related diseases. Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services. Available from: https://rarediseases.info.nih.gov/genes.
  • Hydroxylation of collagen. SciGenom Research Foundation. Available from: http://sgenomics.org/modules/collagen/.
  • PLOD1. PubMed. U.S. National Library of Medicine. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=PLOD1.
  • Registry of collagen and connective tissue disorders. Available from: http://www.clinicalgeneticsdatabase.com/CGDB/Search/cloneClass_569/PLOD1.